PKD1 c.10321C>T ;(p.Q3441*)

Variant ID: 16-2147404-G-A

NM_001009944.2(PKD1):c.10321C>T;(p.Q3441*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Molecular Genetics & Genomic Medicine
Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X
Publication Date: 2019-06

Variant appearance in text: PKD1: 10321C>T; Gln3441X
PubMed Link: 31056860
Variant Present in the following documents:
  • Main text
  • MGG3-7-e720.pdf
View BVdb publication page



System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports
Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X
Publication Date: 2016-10-26

Variant appearance in text: PKD1: 10321C>T; Q3441*
PubMed Link: 27782177
Variant Present in the following documents:
  • srep35945-s1.pdf
View BVdb publication page



Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M
Publication Date: 2014-04-03

Variant appearance in text: PKD1: 10321C>T; Gln3441X
PubMed Link: 24694054
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-41.pdf
View BVdb publication page